Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample CLSTN1 22883 broad.mit.edu 37 1 9804060 9804060 + Missense_Mutation SNP A A T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr1:9804060A>T ENST00000377298.4 - 9 2030 c.1238T>A c.(1237-1239)aTg>aAg p.M413K CLSTN1_ENST00000361311.4_Missense_Mutation_p.M403K|CLSTN1_ENST00000377288.3_Missense_Mutation_p.M413K NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 413 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) GTGCCGATTCATATCTGCAAA 0.438 24 33 --- --- --- --- POMGNT1 55624 broad.mit.edu 37 1 46663480 46663480 + Missense_Mutation SNP T T G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr1:46663480T>G ENST00000396420.3 - 2 650 c.14A>C c.(13-15)aAg>aCg p.K5T POMGNT1_ENST00000371986.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000371992.1_Missense_Mutation_p.K5T|POMGNT1_ENST00000371984.3_Missense_Mutation_p.K5T Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 5 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) GGGGCTGGGCTTCCAGTCGTC 0.582 32 44 --- --- --- --- OLFML3 56944 broad.mit.edu 37 1 114524076 114524076 + Missense_Mutation SNP T T G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr1:114524076T>G ENST00000369551.1 + 4 1134 c.846T>G c.(844-846)gaT>gaG p.D282E OLFML3_ENST00000320334.4_Missense_Mutation_p.D302E|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.D282E Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 302 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAAGTTAGATCCACAGACAC 0.547 12 54 --- --- --- --- TBX15 6913 broad.mit.edu 37 1 119428032 119428032 + Missense_Mutation SNP C C G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr1:119428032C>G ENST00000369429.3 - 8 1141 c.1132G>C c.(1132-1134)Gcc>Ccc p.A378P TBX15_ENST00000207157.3_Missense_Mutation_p.A272P Q96SF7 TBX15_HUMAN T-box 15 378 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GTGTTGGGGGCCAGATGAAAA 0.522 6 32 --- --- --- --- GPA33 10223 broad.mit.edu 37 1 167038355 167038355 + Silent SNP C C T rs144380186 byFrequency TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr1:167038355C>T ENST00000367868.3 - 3 562 c.219G>A c.(217-219)ccG>ccA p.P73P GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 73 Ig-like V-type. integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TGTTTGAAAACGGCCAGATGA 0.507 13 19 --- --- --- --- PLA2G4A 5321 broad.mit.edu 37 1 186925324 186925324 + Nonsense_Mutation SNP C C G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr1:186925324C>G ENST00000367466.3 + 14 1579 c.1427C>G c.(1426-1428)tCa>tGa p.S476* PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.S416* NM_024420.2 NP_077734 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 476 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) GTGAGTGATTCAGCTTTATTC 0.418 22 30 --- --- --- --- PTPRC 5788 broad.mit.edu 37 1 198713285 198713285 + Missense_Mutation SNP A A C TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr1:198713285A>C ENST00000367376.2 + 26 2965 c.2794A>C c.(2794-2796)Aaa>Caa p.K932Q PTPRC_ENST00000594404.1_Missense_Mutation_p.K771Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.K884Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.K773Q|PTPRC_ENST00000442510.2_Missense_Mutation_p.K934Q NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 932 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TAACATGAAGAAAAGGGATCC 0.378 15 21 --- --- --- --- PPP2R5A 5525 broad.mit.edu 37 1 212515567 212515567 + Missense_Mutation SNP C C G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr1:212515567C>G ENST00000261461.2 + 4 1092 c.518C>G c.(517-519)cCt>cGt p.P173R PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.P116R NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 173 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) TTGGAGAGCCCTGATTTCCAG 0.348 48 72 --- --- --- --- SMYD2 56950 broad.mit.edu 37 1 214491465 214491465 + Missense_Mutation SNP T T C TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr1:214491465T>C ENST00000366957.5 + 4 414 c.392T>C c.(391-393)gTg>gCg p.V131A SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.V131A NM_020197.2 NP_064582.2 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 131 SET. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) TTGTTAGCTGTGAAGGAGTTT 0.448 31 52 --- --- --- --- USH2A 7399 broad.mit.edu 37 1 216251433 216251433 + Missense_Mutation SNP T T G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr1:216251433T>G ENST00000366943.2 - 27 5956 c.5570A>C c.(5569-5571)cAa>cCa p.Q1857P USH2A_ENST00000307340.3_Missense_Mutation_p.Q1857P|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1857 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GAACTTACCTTGTTCCAAACA 0.458 HNSCC(13;0.011) 31 35 --- --- --- --- SEC22A 26984 broad.mit.edu 37 3 122990559 122990559 + Missense_Mutation SNP A A C TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr3:122990559A>C ENST00000309934.4 + 6 1810 c.914A>C c.(913-915)tAt>tCt p.Y305S SEC22A_ENST00000481965.2_3'UTR|SEC22A_ENST00000492595.1_Missense_Mutation_p.Y305S NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 305 ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) GCTCCCGATTATGATGTCTGA 0.493 14 22 --- --- --- --- PIK3CB 5291 broad.mit.edu 37 3 138417865 138417865 + Missense_Mutation SNP C C T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr3:138417865C>T ENST00000477593.1 - 12 1727 c.1654G>A c.(1654-1656)Gaa>Aaa p.E552K PIK3CB_ENST00000544716.1_5'UTR|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E552K P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 552 PI3K helical. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E552K(1) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 ATTTCATTTTCACACAGTTGA 0.373 7 71 --- --- --- --- GSX2 170825 broad.mit.edu 37 4 54966544 54966544 + Silent SNP C C A TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr4:54966544C>A ENST00000326902.2 + 1 347 c.33C>A c.(31-33)atC>atA p.I11I GSX2_ENST00000503800.1_Silent_p.I11I|FIP1L1_ENST00000507166.1_Intron NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 11 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) ACTCGCTCATCATCAAGGACA 0.642 3 29 --- --- --- --- NPR3 4883 broad.mit.edu 37 5 32789763 32789763 + Missense_Mutation SNP C C T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr5:32789763C>T ENST00000326958.1 + 1 819 c.256C>T c.(256-258)Cac>Tac p.H86Y NPR3_ENST00000265074.8_3'UTR TTACTCAAGGCACATGTGCCT 0.408 4 126 --- --- --- --- GPR110 266977 broad.mit.edu 37 6 46973590 46973590 + Silent SNP C C T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr6:46973590C>T ENST00000371253.2 - 13 2771 c.2556G>A c.(2554-2556)aaG>aaA p.K852K GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.K655K NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 852 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 AGGCAGACAACTTGTTGAACA 0.373 15 20 --- --- --- --- SMPD2 6610 broad.mit.edu 37 6 109762786 109762786 + Missense_Mutation SNP G G A TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr6:109762786G>A ENST00000258052.3 + 3 538 c.179G>A c.(178-180)aGa>aAa p.R60K NM_003080.2 NP_003071.2 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 60 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) CAGTACCTGAGACAGAAGCTG 0.607 35 42 --- --- --- --- KIF25 3834 broad.mit.edu 37 6 168440860 168440860 + Missense_Mutation SNP G G A TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr6:168440860G>A ENST00000443060.2 + 7 1001 c.610G>A c.(610-612)Gtg>Atg p.V204M KIF25_ENST00000351261.3_Missense_Mutation_p.V204M|KIF25_ENST00000354419.2_Missense_Mutation_p.V204M Q9UIL4 KIF25_HUMAN kinesin family member 25 204 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GATAATTACGGTGACTCTAAC 0.507 11 18 --- --- --- --- CHST12 55501 broad.mit.edu 37 7 2473422 2473422 + Missense_Mutation SNP A A G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr7:2473422A>G ENST00000258711.6 + 2 1283 c.1148A>G c.(1147-1149)aAg>aGg p.K383R NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 383 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) TGGTTCGCCAAGATCCCCCTG 0.627 28 27 --- --- --- --- TRBV6-1 28606 broad.mit.edu 37 7 142028602 142028602 + RNA SNP C C G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr7:142028602C>G ENST00000390353.2 + 0 393 TCTGTGCCAGCAGTGAAGCCA 0.587 40 65 --- --- --- --- ARHGAP20 57569 broad.mit.edu 37 11 110479773 110479773 + Splice_Site SNP C C T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr11:110479773C>T ENST00000260283.4 - 9 994 c.710G>A c.(709-711)gGc>gAc p.G237D ARHGAP20_ENST00000533353.1_Splice_Site_p.G211D|ARHGAP20_ENST00000528829.1_Splice_Site_p.G201D|ARHGAP20_ENST00000527598.1_Splice_Site_p.G201D|ARHGAP20_ENST00000524756.1_Splice_Site_p.G214D|ARHGAP20_ENST00000357139.3_Splice_Site_p.G211D NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 237 Ras-associating. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TCTCTCAGAGCCCTTAGAGAT 0.373 51 65 --- --- --- --- POTEG 404785 broad.mit.edu 37 14 19553754 19553754 + Missense_Mutation SNP G G A TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr14:19553754G>A ENST00000409832.3 + 1 390 c.338G>A c.(337-339)gGc>gAc p.G113D NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 113 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGGGGGAGCGGCAAGAGCAAA 0.597 5 609 --- --- --- --- OR4L1 122742 broad.mit.edu 37 14 20528658 20528658 + Missense_Mutation SNP G G T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr14:20528658G>T ENST00000315683.1 + 1 455 c.455G>T c.(454-456)gGt>gTt p.G152V NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G152V(1) central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGGATAATTGGTTTTTTACAC 0.403 48 34 --- --- --- --- CSNK1G1 53944 broad.mit.edu 37 15 64464144 64464144 + Nonsense_Mutation SNP G G A TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr15:64464144G>A ENST00000303052.7 - 12 1678 c.1255C>T c.(1255-1257)Cag>Tag p.Q419* CSNK1G1_ENST00000607537.1_Intron NM_022048.3 NP_071331.2 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 419 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 13 TTGTGGCGCTGAGCAGTCTTC 0.547 38 68 --- --- --- --- RBL2 5934 broad.mit.edu 37 16 53487463 53487463 + Missense_Mutation SNP A A G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr16:53487463A>G ENST00000262133.6 + 6 1003 c.866A>G c.(865-867)gAa>gGa p.E289G RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E73G NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 289 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTAGTTTTGGAAGCAAAGGGG 0.358 19 76 --- --- --- --- PRSS54 221191 broad.mit.edu 37 16 58314536 58314536 + Silent SNP G G A TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr16:58314536G>A ENST00000219301.4 - 7 1174 c.780C>T c.(778-780)taC>taT p.Y260Y PRSS54_ENST00000567164.1_Silent_p.Y260Y|PRSS54_ENST00000543437.1_Silent_p.Y161Y|CCDC113_ENST00000443128.2_3'UTR|CCDC113_ENST00000219299.4_3'UTR NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 260 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCATTTGCTGTAGTCTTCCA 0.547 15 11 --- --- --- --- ADPRM 56985 broad.mit.edu 37 17 10614356 10614356 + Silent SNP C C G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr17:10614356C>G ENST00000379774.4 + 4 1015 c.924C>G c.(922-924)gcC>gcG p.A308A ADPRM_ENST00000609540.1_3'UTR NM_020233.4 NP_064618.3 ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent ACAGCCAAGCCTTTGGCACAG 0.438 25 20 --- --- --- --- KRT28 162605 broad.mit.edu 37 17 38956166 38956166 + Translation_Start_Site SNP C C T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr17:38956166C>T ENST00000306658.7 - 0 45 NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) GAAATGTTCACCTTGTCTATG 0.398 12 15 --- --- --- --- SLC16A6 9120 broad.mit.edu 37 17 66274395 66274395 + Missense_Mutation SNP A A G TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr17:66274395A>G ENST00000327268.4 - 3 231 c.67T>C c.(67-69)Tgg>Cgg p.W23R ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.W23R NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 23 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GCCCAGCCCCATCCTCCATCA 0.378 29 38 --- --- --- --- GPR32 2854 broad.mit.edu 37 19 51274218 51274218 + Missense_Mutation SNP G G T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr19:51274218G>T ENST00000270590.4 + 1 498 c.361G>T c.(361-363)Gtg>Ttg p.V121L NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 121 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CATCACCTTTGTGTTCCTCAG 0.537 36 27 --- --- --- --- LILRB1 10859 broad.mit.edu 37 19 55143638 55143638 + Missense_Mutation SNP C C T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr19:55143638C>T ENST00000396331.1 + 6 968 c.611C>T c.(610-612)tCt>tTt p.S204F LILRB1_ENST00000396327.3_Missense_Mutation_p.S204F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S204F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S204F|LILRB1_ENST00000448689.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S204F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S204F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S240F NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 204 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GACTCGAACTCTCCCTATGAG 0.602 HNSCC(37;0.09) 14 60 --- --- --- --- NRIP1 8204 broad.mit.edu 37 21 16339649 16339649 + Missense_Mutation SNP T T C TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr21:16339649T>C ENST00000400202.1 - 3 1577 c.865A>G c.(865-867)Aat>Gat p.N289D NRIP1_ENST00000400199.1_Missense_Mutation_p.N289D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N289D P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 289 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TGATTTGCATTTTGCGTTTTT 0.448 32 54 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43230589 43230589 + Missense_Mutation SNP G G A TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr21:43230589G>A ENST00000422911.1 - 22 2845 c.2744C>T c.(2743-2745)gCg>gTg p.A915V PRDM15_ENST00000269844.3_Missense_Mutation_p.A1224V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A858V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A878V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A895V|PRDM15_ENST00000470586.1_5'UTR NM_001282934.1 NP_001269863.1 P57071 PRD15_HUMAN PR domain containing 15 1224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GCAGCTCTGCGCCTCCACCTT 0.627 4 29 --- --- --- --- PI4KA 5297 broad.mit.edu 37 22 21097023 21097023 + Silent SNP G G T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr22:21097023G>T ENST00000255882.6 - 31 3572 c.3486C>A c.(3484-3486)acC>acA p.T1162T PI4KA_ENST00000572273.1_Silent_p.T1104T NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1104 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TCTGGCCTGTGGTGCCTGAGA 0.478 15 76 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 41082490 41082490 + Missense_Mutation SNP C C T TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chrX:41082490C>T ENST00000324545.8 + 39 7219 c.6586C>T c.(6586-6588)Ctt>Ttt p.L2196F USP9X_ENST00000378308.2_Missense_Mutation_p.L2196F NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GAAGACACAGCTTCTGAAATT 0.398 34 5 --- --- --- --- CASR 846 broad.mit.edu 37 3 122002787 122002792 + In_Frame_Del DEL CTCCAG CTCCAG - TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr3:122002787_122002792delCTCCAG ENST00000498619.1 + 7 2454_2459 c.2016_2021delCTCCAG c.(2014-2022)ttctccagc>ttc p.SS673del CASR_ENST00000296154.5_In_Frame_Del_p.SS663del|CASR_ENST00000490131.1_In_Frame_Del_p.SS663del NM_001178065.1 NP_001171536 P41180 CASR_HUMAN calcium-sensing receptor 663 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCTGCTGCTTCTCCAGCTCCCTGTTC 0.592 19 58 --- --- --- --- IFNA16 3449 broad.mit.edu 37 9 21217216 21217216 + Frame_Shift_Del DEL T T - TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr9:21217216delT ENST00000380216.1 - 1 94 c.89delA c.(88-90)cacfs p.H30fs NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 30 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) ACCCAGGCTGTGAGTCTGAGG 0.507 42 100 --- --- --- --- IDE 3416 broad.mit.edu 37 10 94269859 94269859 + Frame_Shift_Del DEL T T - TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr10:94269859delT ENST00000265986.6 - 6 901 c.845delA c.(844-846)aatfs p.N282fs NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 282 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAATGGAACATTTTTGTTCTC 0.318 13 62 --- --- --- --- LOC101928517 101928517 broad.mit.edu 37 19 51671586 51671587 + RNA DEL GT GT - TCGA-YL-A8SL-01B-21D-A377-08 TCGA-YL-A8SL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31956c72-63ea-4756-9bbd-b80357634619 59fb4f93-39cd-4c19-8932-4e6c7609ea75 g.chr19:51671586_51671587delGT ENST00000600074.1 - 0 493 SIGLEC17P_ENST00000598286.1_RNA CCCGGAGCTGGTGTGACCACGG 0.629 7 19 --- --- --- ---